ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) (rs36039758)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036515 SCV000060170 benign not specified 2019-03-05 criteria provided, single submitter clinical testing The p.Asn324Tyr variant in SLC26A4 is classified as benign because it has been i dentified in 3.4% (847/24956) of African chromosomes by gnomAD (http://gnomad.br oadinstitute.org/). ACMG/AMP criteria applied: BA1.
Counsyl RCV000169079 SCV000220250 likely benign Pendred syndrome 2014-04-26 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036515 SCV000343807 benign not specified 2016-08-03 criteria provided, single submitter clinical testing

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